What are the other Names for this Condition? (Also known as/Synonyms)
- Familial Short Stature, Developmental Delay, Pectus Abnormalities, Distinctive Facies, and Dysplastic Nails Syndrome
- Pectus Excavatum, Macrocephaly and Dysplastic Nails Syndrome
- Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
What is Zori Stalker Williams Syndrome? (Definition/Background Information)
- Zori Stalker Williams Syndrome, also known as Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome, is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood)
- There have been no further descriptions in the literature since 1992.
(Source: Pectus excavatum-macrocephaly-dysplastic nails syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)
Who gets Zori Stalker Williams Syndrome? (Age and Sex Distribution)
- Zori Stalker Williams Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
- Both males and females may be affected
- Worldwide, individuals of all racial and ethnic groups may be affected
What are the Risk Factors for Zori Stalker Williams Syndrome? (Predisposing Factors)
- A positive family history may be a risk factor, since Zori Stalker Williams Syndrome can be inherited
- Currently, no risk factors have been clearly identified for the syndrome
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
What are the Causes of Zori Stalker Williams Syndrome? (Etiology)
- The exact cause of development of Zori Stalker Williams Syndrome is not known presently. Very few number cases have been reported
- However, based on the inheritance pattern in a family, it is believed that the disorder may be inherited in an autosomal dominant manner
Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.
What are the Signs and Symptoms of Zori Stalker Williams Syndrome?
The signs and symptoms of Zori Stalker Williams Syndrome may include:
- Malar flattening
- Midface retrusion
- Muscular hypotonia
- Nail dysplasia
- Pectus excavatum
- Prominent forehead
- Prominent supraorbital ridges
- Relative macrocephaly
(Source: Zori Stalker Williams Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)
How is Zori Stalker Williams Syndrome Diagnosed?
Zori Stalker Williams Syndrome is diagnosed on the basis of the following information:
- Complete physical examination
- Thorough medical history evaluation
- Assessment of signs and symptoms
- Laboratory tests
- Imaging studies
- Biopsy studies, if necessary
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
What are the possible Complications of Zori Stalker Williams Syndrome?
The complications of Zori Stalker Williams Syndrome may include:
- Developmental delay in motor skills
- Severe emotional stress due to physical deformities (such as pectus excavatum)
Complications may occur with or without treatment, and in some cases, due to treatment also.
How is Zori Stalker Williams Syndrome Treated?
There is no cure for Zori Stalker Williams Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.
How can Zori Stalker Williams Syndrome be Prevented?
Zori Stalker Williams Syndrome may not be preventable, since it is a genetic disorder.
- If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
- Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
- Regular medical screening at periodic intervals with tests and physical examinations are recommended
What is the Prognosis of Zori Stalker Williams Syndrome? (Outcomes/Resolutions)
- The prognosis of Zori Stalker Williams Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
- Individuals with mild conditions have better prognosis than those with severe symptoms and complications
- Typically, the prognosis may be assessed on a case-by-case basis
Additional and Relevant Useful Information for Zori Stalker Williams Syndrome:
The following DoveMed website link is a useful resource for additional information: